Global Commission

to End the Diagnostic Odyssey for Children with a Rare Disease


11 Key Principles of Newborn Screening to Reduce the Diagnostic Odyssey

EURORDIS-Rare Diseases Europe, in collaboration with its Council of National Alliances, Council of European Federations and its members, has addressed the diagnostic odyssey of children with rare diseases in the recently published “Key Principles for Newborn Screening”.
The publication points out the discrepancies among Europe’s newborn screening policies and calls for a harmonised and integrated healthcare approach, encompassing the highest attainable standard of health for newborns and improved access to treatment for rare and complex health conditions, with which they had been diagnosed.
For many rare diseases, which can be chronic and progressive, symptoms may be observed at birth or in early childhood. Newborn screening programmes can help identify these rare disorders in newborn infants, allowing doctors and parents to minimise barriers to timely diagnosis, plan better for their child’s care and treatment, and make informed decisions about future pregnancies.

Nevertheless, major disparities in screening approaches across Europe persist to this day. There is significant variation within and between countries across Europe in how newborn screening is conducted as well as the follow-up on positive newborn screening results, including divergent approaches to health care and social, economic, and psychological support to families. With 11 Key Principles on Newborn Screening, we seek to address the existing gaps in healthcare delivery and provide immediate and long-term solutions to newborns affected by a rare disease and their families.
The publication echoes the Recommendations from the Rare 2030 Foresight Study, a result of a collaboration between patients, practitioners and key opinion leaders, that provides practical guidance for improved policy and a better future for people living with a rare disease in Europe. These recommendations touch upon eight broad areas including innovative and needs-led research and development and increased access to data sharing to advance newborn screening programmes.
To facilitate a structural shift towards developing concrete legislative and regulatory measures to guarantee the universality of and equal access to newborn screening, EURORDIS calls upon Europe’s principal decision-making bodies and the EU Member States to adopt these principles as part of their commitment to “ensuring universal access to high-quality health care on the basis of equity and solidarity”. With its long history of advocating for integrated medical and social care and improving scientific knowledge on rare diseases, EURORDIS reinforces its determination to bring about change and protect every child’s right to a decent life.